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DisGeNET
DisGeNET is a knowledge management platform that integrates and standardizes the data of genes and mutations related to diseases from multiple sources. It covers entire range of human disease.
| Source | Last Updated |
|---|---|
| DisGeNET | July 29, 2024 |
| Disease ID ▲ | Disease Name | Gene Symbol | Gene ID | Gene Name | UniProt ID |
|---|---|---|---|---|---|
| C0271097 | Usher Syndrome | ARSG | 22901 | arylsulfatase G | Q96EG1 |
| C0271270 | Oculovestibuloauditory syndrome | PIGW | 284098 | phosphatidylinositol glycan anchor biosynthesis class W | Q7Z7B1 |
| C0271270 | Oculovestibuloauditory syndrome | PIGV | 55650 | phosphatidylinositol glycan anchor biosynthesis class V | Q9NUD9 |
| C0271270 | Oculovestibuloauditory syndrome | GPAA1 | 8733 | glycosylphosphatidylinositol anchor attachment 1 | O43292 |
| C0271270 | Oculovestibuloauditory syndrome | PIGO | 84720 | phosphatidylinositol glycan anchor biosynthesis class O | Q8TEQ8 |
| C0271270 | Oculovestibuloauditory syndrome | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0271270 | Oculovestibuloauditory syndrome | DLAT | 1737 | dihydrolipoamide S-acetyltransferase | P10515 |
| C0271270 | Oculovestibuloauditory syndrome | INPP5E | 56623 | inositol polyphosphate-5-phosphatase E | Q9NRR6 |
| C0271270 | Oculovestibuloauditory syndrome | PGAP3 | 93210 | post-GPI attachment to proteins phospholipase 3 | Q96FM1 |
| C0271270 | Oculovestibuloauditory syndrome | NGLY1 | 55768 | N-glycanase 1 | Q96IV0 |
| C0271270 | Oculovestibuloauditory syndrome | PIGL | 9487 | phosphatidylinositol glycan anchor biosynthesis class L | Q9Y2B2 |
| C0271270 | Oculovestibuloauditory syndrome | PIGY | 84992 | phosphatidylinositol glycan anchor biosynthesis class Y | Q3MUY2 |
| C0271270 | Oculovestibuloauditory syndrome | PGAP2 | 27315 | post-GPI attachment to proteins 2 | Q9UHJ9 |
| C0271385 | Horizontal Nystagmus | LARGE1 | 9215 | LARGE xylosyl- and glucuronyltransferase 1 | O95461 |
| C0271385 | Horizontal Nystagmus | ALG13 | 79868 | ALG13 UDP-N-acetylglucosaminyltransferase subunit | Q9NP73 |
| C0271385 | Horizontal Nystagmus | GBA | 2629 | glucosylceramidase beta | P04062 |
| C0271386 | Vertical Nystagmus | PIGN | 23556 | phosphatidylinositol glycan anchor biosynthesis class N | O95427 |
| C0271429 | Acute otitis media | NT5E | 4907 | 5'-nucleotidase ecto | P21589 |
| C0271429 | Acute otitis media | CD14 | 929 | CD14 molecule | P08571 |
| C0271429 | Acute otitis media | CD44 | 960 | CD44 molecule (Indian blood group) | P16070 |
| C0271441 | Chronic otitis media | AGA | 175 | aspartylglucosaminidase | P20933 |
| C0271441 | Chronic otitis media | COMT | 1312 | catechol-O-methyltransferase | P21964 |
| C0271441 | Chronic otitis media | PGM3 | 5238 | phosphoglucomutase 3 | O95394 |
| C0271441 | Chronic otitis media | ALOX12B | 242 | arachidonate 12-lipoxygenase, 12R type | O75342 |
| C0271441 | Chronic otitis media | LGALS1 | 3956 | galectin 1 | P09382 |
